Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP829712.RAAJGvOM7_NBhytkD8pNVy4D6Xnc5q07ACwaBnRBFUdJo130_assertion> ?p ?o ?g. }
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- NP829712.RAAJGvOM7_NBhytkD8pNVy4D6Xnc5q07ACwaBnRBFUdJo130_assertion type Assertion NP829712.RAAJGvOM7_NBhytkD8pNVy4D6Xnc5q07ACwaBnRBFUdJo130_head.
- NP829712.RAAJGvOM7_NBhytkD8pNVy4D6Xnc5q07ACwaBnRBFUdJo130_assertion description "[These results indicate that Perrault syndrome and DBP deficiency overlap clinically; that Perrault syndrome is genetically heterogeneous; that DBP deficiency may be underdiagnosed; and that whole-exome sequencing can reveal critical genes in small, nonconsanguineous families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP829712.RAAJGvOM7_NBhytkD8pNVy4D6Xnc5q07ACwaBnRBFUdJo130_provenance.
- NP829712.RAAJGvOM7_NBhytkD8pNVy4D6Xnc5q07ACwaBnRBFUdJo130_assertion evidence source_evidence_literature NP829712.RAAJGvOM7_NBhytkD8pNVy4D6Xnc5q07ACwaBnRBFUdJo130_provenance.
- NP829712.RAAJGvOM7_NBhytkD8pNVy4D6Xnc5q07ACwaBnRBFUdJo130_assertion SIO_000772 20673864 NP829712.RAAJGvOM7_NBhytkD8pNVy4D6Xnc5q07ACwaBnRBFUdJo130_provenance.
- NP829712.RAAJGvOM7_NBhytkD8pNVy4D6Xnc5q07ACwaBnRBFUdJo130_assertion wasDerivedFrom befree-2016 NP829712.RAAJGvOM7_NBhytkD8pNVy4D6Xnc5q07ACwaBnRBFUdJo130_provenance.
- NP829712.RAAJGvOM7_NBhytkD8pNVy4D6Xnc5q07ACwaBnRBFUdJo130_assertion wasGeneratedBy ECO_0000203 NP829712.RAAJGvOM7_NBhytkD8pNVy4D6Xnc5q07ACwaBnRBFUdJo130_provenance.